C80 Genetic and Non–genetic Determinants of Clinical Variability in a Familial Case of Hypertrophic Cardiomyopathy With Heterozygous Pathogenic Mypbc3 Mutation
Abstract:Mutations in the MYBPC3 gene, which encodes myosin C–binding protein C (cMyBP–C) are among the main causes of hypertrophic cardiomyopathy (HCM). Truncating mutations are recognized as causative in many HCM patients and recently, even missense mutations (e.g E258K mutation) appear to be clinically related to the disease. E258K is one of the most common MYBPC3 mutations, with a prevalence of 15% in Italians. We report a family case, with father and son affected by HCM in which where this mutation was identified … Show more
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